Identifying and evaluating the disparities in familial cancer genetic testing and genetic counselling based on geographical location in Australia

As the study of genetics gains increasing relevance across all areas of medicine, emerging evidence reveals inconsistencies in the utilisation of genetic risk services for familial cancer. Existing literature emphasises an inequality of familial cancer genetic care for individuals who are geographically isolated from familial cancer genetic services. This is an issue that needs to be addressed to improve assessment of risk for any hereditary malignant disease and timely preventative strategies for the individuals ‘at risk,’ including those whose access to these services is limited. The purpose of this research was to review and determine the extent and strength of the published literature regarding familial cancer referral patterns in Australia. Most importantly it also specifically examined the diverse approach of General Practitioners (GPs) in referral rates for familial cancer genetic testing and counselling, and the influences and barriers to these referrals. Furthermore, this study investigated contributing factors that lead to enhanced effectiveness of familial cancer genetic risk care in relation to the geographical location throughout Australia. The methods employed to achieve these objectives included a comprehensive literature review to explore what has been reported on disparities in familiar cancer risk assessment and referrals for genetic testing. A systematic review was conducted to identify the evidence on how location influences referral patterns of familial cancer genetic counselling and genetic testing. Following this a survey was targeted to Australian GPs about their knowledge and involvement in familial cancer genetics, including the initial process they employ to identify an individual’s risk of developing familial cancer and the utilisation of published guidelines. The research included in this thesis identified various factors which influence the provision of familial cancer risk assessment. Conclusions point to an urgent need for further research to assess existing practices in relation to familial cancer genetic testing and counselling, especially for patients outside the metropolitan areas. One of the major impediments for GPs in many locations in Australia, including major cities, is the limited number of specialists such as geneticists, genetic counsellors, and oncologists to provide appropriate information about familial cancer genetic testing and genetic counselling. Other barriers in relation to patient care, and insufficient referrals, include restricted accessibility to molecular-based diagnostics, and a general lack of clinical education and training in the clinical aspects of familial cancer genetics. Although the current study is based on a small sample of participants, the findings substantiate how the confidence and knowledge of GPs in cancer genetic diagnostics is fundamental to providing this specific aspect of health care. This research contributes to existing knowledge by highlighting the importance of genetic testing for predisposition to familial cancer as a routine part of familial cancer screening and as an essential step towards the improvement of familial cancer health care. In answering important research questions this study has offered several insights into issues particularly relating to access to familial cancer genetic risk assessment for all Australians, regardless of their place of residence. This project informs a rationale behind the gaps in referral patterns for familial cancer genetic risk evaluation being influenced by the geographic location. This study serves as a good starting point to create and improve educational pathways for GPs’ capabilities and confidence with referrals for familial cancer genetic testing and genetic counselling. The emerging evidence encourages renewed commitment to strengthen familial cancer health management, especially in remote areas of Australia.